Reagents, Molecular Assay, Gene Anomaly, Deletion, BSCL2
Definition : Molecular assay reagents intended to identify deletions in the Berardinelli-Seip congenital lipodystrophy 2 (BSCL2) gene, located in 11q13, which encodes for seipin, an amino acid protein that is an integral membrane protein of the endoplasmic reticulum. Inherited deletions are associated with Berardinelli-Seip congenital lipodystrophy type 2.
Entry Terms : "Seip Disease Diagnostic Reagents" , "Bernardinelli-Seip Congenital Lipodystrophy Type 2 (BSCL2) Diagnostic Reagents" , "BSCL2 Gene Deletion Detection Reagents"
UMDC code : 24173